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PALB2 analysis in BRCA2-like families

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Abstract

BRCA2 and PALB2 function together in the Fanconi anemia (FA)–Breast Cancer (BRCA) pathway. Mono-allelic and bi-allelic BRCA2 and PALB2 mutation carriers share many clinical characteristics. Mono-allelic germline mutations of BRCA2 and PALB2 are risk alleles of female breast cancer and have also been reported in familial pancreatic cancer, and bi-allelic mutations cause a severe form of Fanconi anemia. In view of these similarities, we investigated whether the prevalence of PALB2 mutations was increased in breast cancer families with the occurrence of BRCA2 associated tumours other than female breast cancer. PALB2 mutation analysis was performed in 110 non-BRCA1/2 cancer patients: (a) 53 ovarian cancer patients from female breast-and/or ovarian cancer families; (b) 45 breast cancer patients with a first or second degree relative with pancreatic cancer; and (c) 12 male breast cancer patients from female breast cancer families. One truncating PALB2 mutation, c.509_510delGA, resulting in p.Arg170X, was found in a male breast cancer patient. We conclude that germline mutations of PALB2 do not significantly contribute to cancer risk in non-BRCA1/2 cancer families with at least one patient with ovarian cancer, male breast cancer, and/or pancreatic cancer.

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Acknowledgement

We are thankful for the kind cooperation of all families and to Roeline van der Eijk who helped selecting these families. We would also like to thank Marijke Hagmeijer and Louise de Lange who counselled several women from the mutation family. This study was funded by The Netherlands Organisation for Scientific Research (NWO) as part of the ZonMw/VIDI grant filenumber 91756341.

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None declared by any of the authors.

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Authors and Affiliations

  1. Department of Clinical Genetics, VU Medical Center, PO Box 7057, 1081 HV, Amsterdam, The Netherlands

    M. A. Adank, S. E. van Mil, J. J. P. Gille, Q. Waisfisz & H. Meijers-Heijboer

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  1. M. A. Adank
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  2. S. E. van Mil
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  3. J. J. P. Gille
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  4. Q. Waisfisz
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  5. H. Meijers-Heijboer
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Correspondence to H. Meijers-Heijboer.

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Adank, M.A., van Mil, S.E., Gille, J.J.P. et al. PALB2 analysis in BRCA2-like families. Breast Cancer Res Treat 127, 357–362 (2011). https://doi.org/10.1007/s10549-010-1001-1

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  • DOI: https://doi.org/10.1007/s10549-010-1001-1

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